Canonical Allele Identifier: CA114372
Gene: PAH HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition phenylketonuria
VCEP Phenylketonuria VCEP
MyVariant.info:
GRCh38 chr12:g.102852923A>G
GRCh37 chr12:g.103246701A>G
Revel Score:
ENST00000553106 (MANE Select) 0.901
ENST00000307000 0.901
gnomAD v2:
12:103246701 A / G
gnomAD v3:
12:102852923 A / G
gnomAD v4:
chr12-102852923-A-G
Joint Max Group AF 0.00063875 (NFE)
Genomes Max Group AF 0.00075533 (NFE)
Exomes Max Group AF 0.0006221 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852923A>G , CM000674.2:g.102852923A>G GRCh38
NC_000012.11:g.103246701A>G , CM000674.1:g.103246701A>G GRCh37
NC_000012.10:g.101770831A>G NCBI36
NG_008690.1:g.69680T>C
NG_008690.2:g.110488T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.734T>C MANE Select ENSP00000448059.1:p.Val245Ala
ENST00000307000.7:c.719T>C ENSP00000303500.2:p.Val240Ala
ENST00000549247.6:n.493T>C
ENST00000553106.5:c.734T>C ENSP00000448059.1:p.Val245Ala
NM_000277.1:c.734T>C NP_000268.1:p.Val245Ala
XM_011538422.1:c.734T>C XP_011536724.1:p.Val245Ala
NM_000277.2:c.734T>C NP_000268.1:p.Val245Ala
NM_001354304.1:c.734T>C NP_001341233.1:p.Val245Ala
NM_000277.3:c.734T>C MANE Select NP_000268.1:p.Val245Ala
NM_001354304.2:c.734T>C NP_001341233.1:p.Val245Ala
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